Kartagener syndrome - pediatric

Case contributed by Noelani Silverio Gonzales
Diagnosis certain

Presentation

Coarse breath sounds and right sided point of maximal cardiac impulse.

Patient Data

Age: 4 years
Gender: Female
x-ray

Supine plain film performed in the frontal plane reveals liver located on the left side of the upper abdomen. The heart apex is visible above the right diaphragmatic border. 

Additional findings include lumbarization of S1. 

Case Discussion

A genetic panel after birth revealed abnormal variants in Dyx1c1 and DNAH11, confirming situs inversus. Kartagener syndrome was diagnosed due to recurrent infections in addition to abnormal laterality of respiratory and abdominal organs. 

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